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  • nancy1
    Junior Member
    • Mar 2011
    • 1

    #1

    dating of rare variants

    Dear Users

    I work in the field of clinical genetics as bioinformatics analyst. I had four patients whose clinical presentation was that of arthrogryposis multiplex. All four underwent exome sequencing and found to harbor common genetic variant in LGI4 gene. this gene resides on chromosome 19. I have extracted the common haplotype around the variant in all four individuals and using that information calculated the age of the variant.
    My question is what all statistical test would I require to prove that the age of the variant is correct. 2) would I require the normal population sample to see if the haplotype shared in the diseased patients is not by chance?

    Thank you in advance

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